|Institutional Source||Beutler Lab|
|Gene Name||neutral sphingomyelinase (N-SMase) activation associated factor|
|Synonyms||Fan, factor associated with N-SMase activation|
|Is this an essential gene?||Probably non essential (E-score: 0.119)|
|Stock #||R7288 (G1)|
|Chromosomal Location||6396207-6454271 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 6416641 bp|
|Amino Acid Change||Valine to Isoleucine at position 551 (V551I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029910 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029910]|
|Predicted Effect||probably benign
AA Change: V551I
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: V551I
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD-repeat protein that binds the cytoplasmic sphingomyelinase activation domain of the 55kD tumor necrosis factor receptor. This protein is required for TNF-mediated activation of neutral sphingomyelinase and may play a role in regulating TNF-induced cellular responses such as inflammation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a targeted null mutation show no gross phenotypic abnormalities but display delayed cutaneous barrier repair. In addition, D-galactosamine-sensitized homozygotes are partially resistant to LPS- and TNF-induced lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nsmaf||
(F):5'- AAAGGCCTCTCTACATTCACTC -3'
(R):5'- GCTTTCAAGGTGCTAAAACACAGAAAG -3'
(F):5'- ACATTCACTCTTTACAAGGCTCAC -3'
(R):5'- GTTTGGCAACTCAAAGCTATCAGG -3'